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NM_003480.4(MFAP5):c.248-18del AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 10, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003230554.8

Allele description [Variation Report for NM_003480.4(MFAP5):c.248-18del]

NM_003480.4(MFAP5):c.248-18del

Gene:
MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_003480.4(MFAP5):c.248-18del
HGVS:
  • NC_000012.12:g.8650613del
  • NG_041814.1:g.17282del
  • NM_001297709.2:c.218-18del
  • NM_001297710.2:c.182-18del
  • NM_001297711.2:c.173-18del
  • NM_001297712.2:c.218-2404del
  • NM_003480.4:c.248-18delMANE SELECT
  • NC_000012.11:g.8803203del
  • NC_000012.11:g.8803209del
  • NM_003480.3:c.248-18delT
  • NM_003480.3:c.248-18delT
Links:
dbSNP: rs3841565
NCBI 1000 Genomes Browser:
rs3841565
Molecular consequence:
  • NM_001297709.2:c.218-18del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297710.2:c.182-18del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297711.2:c.173-18del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297712.2:c.218-2404del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003480.4:c.248-18del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929325Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Apr 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024